Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22826084_22826085dup , CM000677.2:g.22826084_22826085dup | GRCh38 |
| NC_000015.9:g.23046989_23046990dup , CM000677.1:g.23046989_23046990dup | GRCh37 |
| NC_000015.8:g.20598430_20598431dup | NCBI36 |
| NG_009056.1:g.44860_44861dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.*1845_*1846dup MANE Select | NP_653200.2:n.*1845_*1846dup |
| ENST00000337435.9:c.*1845_*1846dup MANE Select | ENSP00000337452.4:n.*1845_*1846dup |
| NM_001142275.1:c.*1845_*1846dup | NP_001135747.1:n.*1845_*1846dup |
| NM_144599.4:c.*1845_*1846dup | NP_653200.2:n.*1845_*1846dup |
| ENST00000337435.8:c.*1845_*1846dup | ENSP00000337452.4:n.*1845_*1846dup |
| ENST00000437912.6:c.*1845_*1846dup | ENSP00000393962.2:n.*1845_*1846dup |